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Carmen Prior

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Metabolism: Clinical and Experimental|August 19, 2007
Efficacy and safety of allopurinol in patients with hypoxanthine-guanine phosphoribosyltransferase deficiencyRosa J Torres, Carmen Prior, Juan G Puig
The Biochemical Journal|October 24, 2003
Adenosine transport in peripheral blood lymphocytes from Lesch-Nyhan patientsRosa J Torres, Isabel Deantonio, Carmen Prior, et al.
Molecular Genetics and Metabolism|March 5, 2008
Normal HPRT coding region in complete and partial HPRT deficiencyMarta G García, Rosa J Torres, Carmen Prior, et al.
Advances in Laboratory Medicine|June 26, 2023
Prenatal genetic diagnosis of monogenic diseasesCarmen Prior-de Castro, Clara Gómez-González, Raquel Rodríguez-López, et al.
Journal of the Neurological Sciences|January 8, 2019
A novel PLP1 deletion causing classic Pelizaeus-Merzbacher diseaseCarmen Prior, Maria Muñoz-Calero, Clara Gómez-Gonzalez, et al.
Journal of Genetics|September 24, 2019
Myotonia congenita: mutation spectrum of <i>CLCN1</i> in Spanish patientsCarmen Palma Milla, Carmen Prior De Castro, Clara Gómez-González, et al.
Annals of Indian Academy of Neurology|June 16, 2017
Molecular Diagnosis of Limb-girdle Muscular Dystrophy Type 2A by Next-generation SequencingClara Gómez-González, Maria Isabel Esteban-Rodríguez, Yolanda Ruano, et al.
Neuromuscular Disorders : NMD|November 8, 2017
A SCN4A mutation causing paramyotonia congenitaCarmen Palma, Carmen Prior, Clara Gómez-González, et al.
Medrxiv : the Preprint Server for Health Sciences|December 25, 2025
MOG1<sup>L18F</sup>-mediated increase in late sodium current produces Long QT SyndromePaula G Socuéllamos, Juan Manuel Ruiz-Robles, Francisco M Cruz, et al.
Fetal Diagnosis and Therapy|December 4, 2025
Intrauterine Treatment in Two Fetuses Affected by Cystic Fibrosis: To Whom and Since When? Report of CasesNuria Martínez Sánchez, Beatriz Herrero, Elena Mansilla, et al.
Pageof 2

Showing results (1-10 of 16) with videos related to

Sort By:
Pageof 2
Metabolism: Clinical and Experimental|August 19, 2007
Efficacy and safety of allopurinol in patients with hypoxanthine-guanine phosphoribosyltransferase deficiencyRosa J Torres, Carmen Prior, Juan G Puig
The Biochemical Journal|October 24, 2003
Adenosine transport in peripheral blood lymphocytes from Lesch-Nyhan patientsRosa J Torres, Isabel Deantonio, Carmen Prior, et al.
Molecular Genetics and Metabolism|March 5, 2008
Normal HPRT coding region in complete and partial HPRT deficiencyMarta G García, Rosa J Torres, Carmen Prior, et al.
Advances in Laboratory Medicine|June 26, 2023
Prenatal genetic diagnosis of monogenic diseasesCarmen Prior-de Castro, Clara Gómez-González, Raquel Rodríguez-López, et al.
Journal of the Neurological Sciences|January 8, 2019
A novel PLP1 deletion causing classic Pelizaeus-Merzbacher diseaseCarmen Prior, Maria Muñoz-Calero, Clara Gómez-Gonzalez, et al.
Journal of Genetics|September 24, 2019
Myotonia congenita: mutation spectrum of <i>CLCN1</i> in Spanish patientsCarmen Palma Milla, Carmen Prior De Castro, Clara Gómez-González, et al.
Annals of Indian Academy of Neurology|June 16, 2017
Molecular Diagnosis of Limb-girdle Muscular Dystrophy Type 2A by Next-generation SequencingClara Gómez-González, Maria Isabel Esteban-Rodríguez, Yolanda Ruano, et al.
Neuromuscular Disorders : NMD|November 8, 2017
A SCN4A mutation causing paramyotonia congenitaCarmen Palma, Carmen Prior, Clara Gómez-González, et al.
Medrxiv : the Preprint Server for Health Sciences|December 25, 2025
MOG1<sup>L18F</sup>-mediated increase in late sodium current produces Long QT SyndromePaula G Socuéllamos, Juan Manuel Ruiz-Robles, Francisco M Cruz, et al.
Fetal Diagnosis and Therapy|December 4, 2025
Intrauterine Treatment in Two Fetuses Affected by Cystic Fibrosis: To Whom and Since When? Report of CasesNuria Martínez Sánchez, Beatriz Herrero, Elena Mansilla, et al.
Pageof 2